Varaico: Literature-Extracted Genetic Variants

Gene:VAMP2
Variant:p.R56*
Back to variants list

VAMP2

NM_014232.3:p.R56*

Associated Papers

Synaptobrevin-2 disease variants reveal spatial constraints within the presynaptic active zone.

Guzikowski NJ et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

VAMP2 Gene-Related Neurodevelopmental Disorder: A Differential Diagnosis for Rett/Angelman-Type Spectrum of Disorders.

Bogue D et al.

Molecular Syndromology, 2023

Overcoming presynaptic effects of VAMP2 mutations with 4-aminopyridine treatment.

Simmons RL et al.

Human Mutation, 2020

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."